What VAF range is associated with germline mutations?

Get ready for the American Board of Genetic Counseling exam. Prepare with flashcards and multiple choice questions, each question includes hints and explanations. Ace your exam with confidence!

The correct answer reflects the fact that germline mutations result in the inheritance of genetic variations that are present in the reproductive cells (sperm and eggs). When assessing variant allele frequency (VAF), germline mutations typically show a VAF that is significantly higher than somatic mutations because germline mutations affect all cells in an individual, leading to a uniform distribution across various tissues.

VAF is a measure of the concentration of a specific variant in a sample. In the case of germline mutations, a VAF under 30% is typically expected since these mutations are present throughout the body. If the VAF were to be in the range of 30-50%, it would suggest a different scenario, possibly indicating the presence of somatic mutations or a higher allele burden.

In summary, the VAF range associated with germline mutations is generally under 30%, as this reflects their presence across all somatic cells, whereas VAFs higher than this may suggest the influence of other mutation types or conditions.

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